Canonical Allele Identifier: CA1400713262
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs1126566

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480633C>G , CM000665.2:g.128480633C>G GRCh38
NC_000003.11:g.128199476C>G , CM000665.1:g.128199476C>G GRCh37
NC_000003.10:g.129682166C>G NCBI36
NG_029334.1:g.17555G>C , LRG_295:g.17555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*386G>C MANE Plus Clinical ENSP00000417074.1:n.*386G>C
ENST00000696466.1:c.*386G>C ENSP00000512647.1:n.*386G>C
ENST00000696672.1:c.804G>C ENSP00000512796.1:n.804G>C
ENST00000341105.7:c.*386G>C MANE Select ENSP00000345681.2:n.*386G>C
ENST00000341105.6:c.*386G>C ENSP00000345681.2:n.*386G>C
ENST00000430265.6:c.*386G>C ENSP00000400259.2:n.*386G>C
ENST00000489987.1:n.946G>C
NM_001145661.1:c.*386G>C , LRG_295t1:c.*386G>C NP_001139133.1:n.*386G>C
NM_001145662.1:c.*386G>C NP_001139134.1:n.*386G>C
NM_032638.4:c.*386G>C , LRG_295t2:c.*386G>C NP_116027.2:n.*386G>C
NM_001145661.2:c.*386G>C MANE Plus Clinical NP_001139133.1:n.*386G>C
NM_032638.5:c.*386G>C MANE Select NP_116027.2:n.*386G>C